Variant report

Variant	rs74128516
Chromosome Location	chr1:174908887-174908888
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174908320..174910168-chr1:174924231..174926585,2	K562	blood:
2	chr1:174896436..174898470-chr1:174907347..174910296,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10912847	1.00[EUR][1000 genomes]
rs10912851	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912858	1.00[EUR][1000 genomes]
rs10912864	1.00[EUR][1000 genomes]
rs11806870	1.00[EUR][1000 genomes]
rs12057161	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12068625	1.00[EUR][1000 genomes]
rs12070082	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12076591	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12084999	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094050	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12096717	1.00[EUR][1000 genomes]
rs1231828	1.00[EUR][1000 genomes]
rs1329280	1.00[EUR][1000 genomes]
rs1612104	1.00[EUR][1000 genomes]
rs1618234	1.00[EUR][1000 genomes]
rs1653631	1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	1.00[EUR][1000 genomes]
rs1754356	1.00[EUR][1000 genomes]
rs189141	1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2981891	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	1.00[EUR][1000 genomes]
rs2987878	1.00[EUR][1000 genomes]
rs332766	1.00[EUR][1000 genomes]
rs332780	1.00[EUR][1000 genomes]
rs332785	1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs332792	1.00[EUR][1000 genomes]
rs333419	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs58238388	1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
4	chr1:174886400-174911600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:174897400-174910000	Weak transcription	Gastric	stomach
6	chr1:174898800-174910600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:174899800-174915200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:174900800-174911000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:174901000-174909400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:174902200-174909000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:174903800-174911000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:174905800-174910000	Weak transcription	Pancreas	Pancrea
14	chr1:174905800-174910600	Weak transcription	HepG2	liver
15	chr1:174905800-174911600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:174907200-174910400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:174907600-174910000	Weak transcription	K562	blood
18	chr1:174907600-174910200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:174907600-174910800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:174908000-174909000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:174908000-174909000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:174908000-174909400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:174908000-174910000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:174908000-174910000	Weak transcription	Right Atrium	heart
25	chr1:174908000-174910600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:174908000-174911200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:174908000-174911200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:174908000-174911200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:174908000-174911600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:174908000-174911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:174908000-174911800	Weak transcription	Fetal Lung	lung
32	chr1:174908000-174914600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:174908200-174909000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:174908200-174909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:174908200-174910000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:174908200-174910000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:174908200-174910000	Weak transcription	Stomach Mucosa	stomach
40	chr1:174908200-174910000	Weak transcription	HSMMtube	muscle
41	chr1:174908200-174910600	Weak transcription	Fetal Kidney	kidney
42	chr1:174908200-174911000	Weak transcription	Liver	Liver
43	chr1:174908200-174911200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:174908200-174911600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:174908200-174911600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:174908200-174914000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:174908200-174914200	Weak transcription	Small Intestine	intestine
48	chr1:174908200-174914800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:174908200-174915200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:174908200-174924200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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