Variant report

Variant	rs9991863
Chromosome Location	chr4:174126411-174126412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:174124001..174126902-chr4:174251610..174253502,2	K562	blood:
2	chr4:174124063..174127246-chr4:174130049..174132075,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10005325	0.92[EUR][1000 genomes]
rs10024603	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10520255	0.95[EUR][1000 genomes]
rs10520256	0.95[EUR][1000 genomes]
rs11942280	0.96[EUR][1000 genomes]
rs13102038	0.96[EUR][1000 genomes]
rs13116270	0.95[EUR][1000 genomes]
rs13117810	0.91[EUR][1000 genomes]
rs13120215	0.91[EUR][1000 genomes]
rs13123359	0.86[EUR][1000 genomes]
rs13141844	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13142524	0.96[EUR][1000 genomes]
rs13151627	0.96[EUR][1000 genomes]
rs17059205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059207	0.95[EUR][1000 genomes]
rs17059217	0.86[EUR][1000 genomes]
rs2332657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332658	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28361970	0.95[EUR][1000 genomes]
rs28413646	0.92[EUR][1000 genomes]
rs28694391	0.84[EUR][1000 genomes]
rs34285915	0.85[EUR][1000 genomes]
rs34718403	0.91[EUR][1000 genomes]
rs35576170	0.83[EUR][1000 genomes]
rs35644315	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35679682	0.84[EUR][1000 genomes]
rs35730812	0.87[EUR][1000 genomes]
rs35796775	0.83[EUR][1000 genomes]
rs36050097	0.83[EUR][1000 genomes]
rs4380500	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4608791	0.84[EUR][1000 genomes]
rs4695827	0.93[EUR][1000 genomes]
rs4696050	0.91[EUR][1000 genomes]
rs4696054	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6553686	0.86[EUR][1000 genomes]
rs6822924	0.96[EUR][1000 genomes]
rs6858043	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs722826	0.86[EUR][1000 genomes]
rs722827	0.86[EUR][1000 genomes]
rs7661977	0.91[EUR][1000 genomes]
rs7667345	0.87[EUR][1000 genomes]
rs7668473	0.93[EUR][1000 genomes]
rs7673747	0.95[EUR][1000 genomes]
rs9685410	0.84[EUR][1000 genomes]
rs9995556	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174108800-174126800	Weak transcription	Spleen	Spleen
3	chr4:174112600-174131200	Weak transcription	Colonic Mucosa	Colon
4	chr4:174112800-174127000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:174112800-174140000	Weak transcription	Aorta	Aorta
6	chr4:174113400-174132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:174113800-174138000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:174114000-174130800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:174114200-174127000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:174115200-174127200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:174116800-174135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:174117000-174127800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:174117000-174130800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:174120400-174131200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:174120800-174127200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:174122000-174132600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:174122200-174130800	Weak transcription	HUVEC	blood vessel
20	chr4:174123000-174130400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:174123400-174126600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:174123600-174130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:174123800-174129600	Weak transcription	K562	blood
25	chr4:174124000-174130600	Weak transcription	Stomach Mucosa	stomach
26	chr4:174124200-174126600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:174124800-174131800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:174125000-174126800	Strong transcription	Fetal Thymus	thymus
29	chr4:174125200-174126600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr4:174125200-174126800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr4:174125200-174126800	Strong transcription	Dnd41	blood
32	chr4:174125400-174127200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:174125400-174127200	Weak transcription	Small Intestine	intestine
34	chr4:174125600-174126600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr4:174125600-174126800	Strong transcription	A549	lung
36	chr4:174125600-174127200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:174125600-174130400	Weak transcription	Right Ventricle	heart
38	chr4:174125600-174144800	Weak transcription	Primary B cells from cord blood	blood
39	chr4:174125800-174128200	Strong transcription	Primary T cells from cord blood	blood
40	chr4:174125800-174132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:174125800-174132400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:174125800-174139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:174126000-174126600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:174126000-174126600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:174126000-174126600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:174126000-174126600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:174126000-174126600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:174126000-174126600	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr4:174126000-174126600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr4:174126000-174126600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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