Variant report

Variant	rs74177695
Chromosome Location	chr2:100938328-100938329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100937836..100939384-chr2:100985447..100988278,2	K562	blood:
2	chr2:100877863..100879986-chr2:100936694..100939073,4	MCF-7	breast:
3	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
4	chr2:100924962..100929082-chr2:100936842..100940898,4	K562	blood:
5	chr2:100919515..100922139-chr2:100935944..100938623,2	K562	blood:
6	chr2:100629972..100631740-chr2:100936209..100938926,2	MCF-7	breast:
7	chr2:100920038..100923906-chr2:100937053..100939083,4	MCF-7	breast:
8	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:
9	chr2:100937545..100939086-chr2:100943164..100946090,2	K562	blood:
10	chr2:100936567..100938994-chr2:101033479..101035726,2	MCF-7	breast:
11	chr2:100924962..100929454-chr2:100936842..100940898,4	K562	blood:
12	chr2:100936347..100938622-chr2:101175344..101178245,2	K562	blood:
13	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269383	Chromatin interaction
ENSG00000170500	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10048665	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10174145	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10180423	0.85[EUR][1000 genomes]
rs10182399	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10183150	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10186134	0.86[EUR][1000 genomes]
rs10193204	0.87[EUR][1000 genomes]
rs10194210	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10195793	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10202326	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1030901	0.87[EUR][1000 genomes]
rs1030902	0.90[EUR][1000 genomes]
rs10460478	0.84[EUR][1000 genomes]
rs11123824	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11123826	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123827	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1114595	0.85[EUR][1000 genomes]
rs11674569	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11674830	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11675901	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11676282	0.80[EUR][1000 genomes]
rs11678148	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11678158	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680660	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682557	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11682748	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11683121	0.84[EUR][1000 genomes]
rs11684004	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684516	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11685250	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11685406	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686293	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11686649	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686799	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686842	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686880	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687352	0.84[EUR][1000 genomes]
rs11687864	0.84[AMR][1000 genomes]
rs11687865	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688285	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11689439	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11691135	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691684	0.87[EUR][1000 genomes]
rs11693044	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11693424	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11693471	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694642	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694700	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11892034	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11895772	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12615466	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12617779	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12618908	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12621892	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12622318	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12712075	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12989897	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12990688	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12991172	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12991577	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12997725	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999151	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999779	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13001423	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13006224	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13020451	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021801	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13023534	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13026570	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13031711	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13031906	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1437967	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1437969	0.84[EUR][1000 genomes]
rs1530028	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1530029	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1530030	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530031	0.88[EUR][1000 genomes]
rs1811415	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1837143	0.85[EUR][1000 genomes]
rs1866198	0.83[EUR][1000 genomes]
rs1946799	0.80[EUR][1000 genomes]
rs1967339	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1967341	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099611	0.83[EUR][1000 genomes]
rs2164847	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241809	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241810	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241811	0.84[EUR][1000 genomes]
rs2309798	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2309800	0.82[EUR][1000 genomes]
rs2309852	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3748930	0.88[EUR][1000 genomes]
rs3828193	0.89[EUR][1000 genomes]
rs4149505	0.89[EUR][1000 genomes]
rs4149507	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4149510	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4149512	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4149513	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4149517	0.84[EUR][1000 genomes]
rs4149518	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4149523	0.83[EUR][1000 genomes]
rs4264577	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4340543	0.87[EUR][1000 genomes]
rs4378827	0.84[EUR][1000 genomes]
rs4387816	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4407265	0.81[EUR][1000 genomes]
rs4477940	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4635546	0.83[EUR][1000 genomes]
rs4640404	0.84[EUR][1000 genomes]
rs4850927	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4850929	0.83[EUR][1000 genomes]
rs4850930	0.83[EUR][1000 genomes]
rs4850931	0.86[EUR][1000 genomes]
rs4851292	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4851293	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851294	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851297	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851298	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4851302	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851303	0.84[EUR][1000 genomes]
rs4851304	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4851305	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851310	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851311	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851312	0.84[EUR][1000 genomes]
rs62148360	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6542940	0.85[EUR][1000 genomes]
rs6542942	0.86[EUR][1000 genomes]
rs6542944	0.83[EUR][1000 genomes]
rs6542947	0.83[EUR][1000 genomes]
rs6716636	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725052	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731549	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6736311	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6737217	0.90[EUR][1000 genomes]
rs6749018	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754176	0.83[EUR][1000 genomes]
rs6757754	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74177694	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74177696	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7425449	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7425797	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7585582	0.83[EUR][1000 genomes]
rs7597615	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs893416	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs920269	0.83[EUR][1000 genomes]
rs920270	0.84[EUR][1000 genomes]
rs930374	0.84[EUR][1000 genomes]
rs9973536	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3323401	chr2:100935920-100940518	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3359521	chr2:100937345-100939893	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3501611	chr2:100937370-100939668	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3501612	chr2:100937370-100939668	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100935800-100939400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:100936000-100938800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:100936000-100939400	Active TSS	A549	lung
4	chr2:100936800-100939400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:100937000-100939200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:100937000-100939400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:100937000-100939400	Active TSS	Ovary	ovary
8	chr2:100937000-100939400	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:100937200-100939000	Active TSS	Left Ventricle	heart
10	chr2:100937200-100939000	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:100937200-100939200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:100937200-100939200	Active TSS	Brain Hippocampus Middle	brain
13	chr2:100937200-100939200	Flanking Bivalent TSS/Enh	Lung	lung
14	chr2:100937200-100939400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:100937200-100939400	Active TSS	Brain Anterior Caudate	brain
16	chr2:100937200-100939400	Active TSS	Right Atrium	heart
17	chr2:100937400-100938800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr2:100937400-100939200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr2:100937400-100939200	Active TSS	Gastric	stomach
20	chr2:100937400-100939400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:100937400-100939400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:100937400-100939400	Active TSS	Brain Angular Gyrus	brain
23	chr2:100937400-100939400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:100937600-100938400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:100937600-100938800	Bivalent/Poised TSS	Colonic Mucosa	Colon
26	chr2:100937600-100939000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr2:100937600-100939000	Active TSS	K562	blood
28	chr2:100937600-100939200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:100937600-100939200	Active TSS	Aorta	Aorta
30	chr2:100937600-100939200	Active TSS	Brain Substantia Nigra	brain
31	chr2:100937600-100939200	Active TSS	Colon Smooth Muscle	Colon
32	chr2:100937600-100939400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:100937600-100939400	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:100937800-100938600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:100937800-100938600	Bivalent/Poised TSS	Thymus	Thymus
36	chr2:100937800-100938800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:100937800-100938800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:100937800-100938800	Weak transcription	Fetal Brain Male	brain
39	chr2:100937800-100938800	Active TSS	Psoas Muscle	Psoas
40	chr2:100937800-100938800	Bivalent/Poised TSS	HUVEC	blood vessel
41	chr2:100937800-100939000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr2:100937800-100939000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:100937800-100939000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:100937800-100939000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:100937800-100939000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr2:100937800-100939000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:100937800-100939000	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr2:100937800-100939200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:100937800-100939200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:100937800-100939200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links