Variant report

Variant	rs4140804
Chromosome Location	chr7:7714310-7714311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7713254..7715065-chr7:7752185..7753849,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227236	0.81[AFR][1000 genomes]
rs10229371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10246966	0.80[AFR][1000 genomes]
rs10262410	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10263415	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264890	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10277292	0.82[AFR][1000 genomes]
rs10277945	0.83[ASN][1000 genomes]
rs10278708	0.82[AFR][1000 genomes]
rs11508478	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11773013	0.84[ASN][1000 genomes]
rs13221027	0.81[AFR][1000 genomes]
rs13231388	0.87[AFR][1000 genomes]
rs13232471	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13234728	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13239834	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13246995	0.84[ASN][1000 genomes]
rs1557997	0.81[AFR][1000 genomes]
rs17169379	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057929	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057930	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057931	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108000	0.81[AFR][1000 genomes]
rs2108001	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108003	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2158715	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160138	0.84[ASN][1000 genomes]
rs4140802	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4140805	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4313075	0.80[AFR][1000 genomes]
rs4720750	0.93[ASN][1000 genomes]
rs4725014	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966726	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967126	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791564	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7804775	0.80[AFR][1000 genomes]
rs7805143	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7805802	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs886725	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs886726	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9640047	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:7693400-7714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:7694800-7718400	Weak transcription	Ovary	ovary
7	chr7:7696600-7715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:7699800-7715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:7702000-7717000	Weak transcription	Fetal Stomach	stomach
10	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:7702200-7715000	Weak transcription	Lung	lung
12	chr7:7702400-7715000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:7702400-7715400	Weak transcription	Pancreas	Pancrea
14	chr7:7702400-7715800	Weak transcription	Spleen	Spleen
15	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
16	chr7:7704200-7717600	Weak transcription	Fetal Kidney	kidney
17	chr7:7704400-7715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:7704400-7715400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:7704400-7720800	Weak transcription	Stomach Mucosa	stomach
20	chr7:7704400-7721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:7706000-7715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:7706000-7715400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:7706000-7715400	Weak transcription	Esophagus	oesophagus
25	chr7:7706800-7743200	Weak transcription	Gastric	stomach
26	chr7:7707000-7719400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:7707400-7714600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:7707800-7718200	Weak transcription	HSMMtube	muscle
29	chr7:7708600-7714800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:7708800-7720800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:7709000-7715000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:7709200-7720800	Weak transcription	Psoas Muscle	Psoas
34	chr7:7710800-7715200	Weak transcription	Aorta	Aorta
35	chr7:7711200-7714800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:7711200-7717000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:7711600-7717600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:7711600-7720800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:7711600-7726400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:7711800-7715000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:7711800-7721000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:7712200-7714800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:7712400-7715200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:7712400-7717400	Weak transcription	Placenta	Placenta
45	chr7:7712400-7720800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:7712400-7720800	Weak transcription	Dnd41	blood
47	chr7:7712600-7715000	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:7712600-7717600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:7712600-7720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:7712800-7715000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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