Variant report

Variant	rs6862487
Chromosome Location	chr5:43650816-43650817
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	chr5:43555714..43557829-chr5:43647823..43651133,3	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10050726	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10054514	1.00[AMR][1000 genomes]
rs10055374	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10058080	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10058555	0.81[EUR][1000 genomes]
rs10059613	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10064711	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10066806	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10071683	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10073552	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10074229	0.92[ASN][1000 genomes]
rs10077972	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10079935	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10461740	1.00[JPT][hapmap]
rs10461741	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10461742	1.00[CEU][hapmap]
rs10461743	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10461744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10462052	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10462053	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10462054	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10462055	0.81[EUR][1000 genomes]
rs10472386	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10941642	0.82[JPT][hapmap]
rs12332274	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12654258	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12655350	0.81[EUR][1000 genomes]
rs12656650	1.00[JPT][hapmap]
rs12659627	1.00[JPT][hapmap]
rs13158796	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13159393	0.81[EUR][1000 genomes]
rs13161149	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13161298	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13161838	0.92[ASN][1000 genomes]
rs13165656	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13165869	1.00[JPT][hapmap]
rs13166593	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13168053	1.00[JPT][hapmap]
rs13170672	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13173498	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13173517	1.00[JPT][hapmap]
rs13173726	0.81[EUR][1000 genomes]
rs13175037	0.81[EUR][1000 genomes]
rs13175688	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13177107	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13177579	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13181483	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13183122	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13183238	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13186372	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13187073	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13187313	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13187695	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13188640	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13188683	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13189630	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13356232	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1469436	0.98[ASN][1000 genomes]
rs16873404	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873421	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16873432	1.00[ASN][1000 genomes]
rs16873433	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873435	1.00[ASN][1000 genomes]
rs16873438	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs16873443	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873454	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873455	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873466	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873502	1.00[CEU][hapmap]
rs2042950	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2303733	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28520030	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34076603	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34079397	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34132518	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34153332	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34225966	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34307136	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34330393	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34361701	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34369923	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34577568	0.90[ASN][1000 genomes]
rs34753533	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34760245	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34784550	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34985223	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35023717	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35069805	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35141665	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35201656	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35370110	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35393262	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35493041	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35679811	0.81[EUR][1000 genomes]
rs35768478	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35773835	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35826690	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35910245	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35955731	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35979310	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3764979	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764980	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792915	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792916	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792917	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792918	0.90[ASN][1000 genomes]
rs3792921	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792922	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805720	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805721	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805722	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3805723	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828695	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828696	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41271083	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4380668	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4533897	1.00[JPT][hapmap]
rs62367607	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62367633	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62367649	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367650	1.00[ASN][1000 genomes]
rs62367651	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367653	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62368561	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368564	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368567	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368570	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368571	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368578	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62368656	0.81[EUR][1000 genomes]
rs62369481	0.81[EUR][1000 genomes]
rs6451719	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6451720	0.98[ASN][1000 genomes]
rs6868763	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878821	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6893250	1.00[ASN][1000 genomes]
rs6895383	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6896932	0.96[ASN][1000 genomes]
rs6898436	1.00[ASN][1000 genomes]
rs71590644	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71590645	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71629182	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71629184	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71629185	1.00[ASN][1000 genomes]
rs71629186	0.98[ASN][1000 genomes]
rs71629187	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71629192	0.88[EUR][1000 genomes]
rs716960	1.00[CEU][hapmap]
rs7708386	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7711370	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7713458	0.96[ASN][1000 genomes]
rs7713749	0.96[ASN][1000 genomes]
rs7716562	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7733259	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7737947	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9686857	0.91[AMR][1000 genomes];0.91[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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
3	chr5:43621600-43651800	Weak transcription	HMEC	breast
4	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
6	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:43631600-43664200	Weak transcription	A549	lung
8	chr5:43636400-43664200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:43638200-43659200	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:43639200-43665400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:43640000-43665400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:43642800-43661200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:43643200-43652000	Strong transcription	Liver	Liver
15	chr5:43643200-43661000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:43643200-43661400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:43643200-43661600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:43643600-43665200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:43643800-43664600	Strong transcription	Dnd41	blood
21	chr5:43644200-43660600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:43644200-43664000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:43644600-43657400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:43644600-43660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:43644600-43661000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:43644600-43661400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:43644800-43653000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:43644800-43660600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:43645400-43660600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:43645400-43661000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:43645400-43661000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:43645400-43661400	Strong transcription	Fetal Thymus	thymus
34	chr5:43646000-43657400	Strong transcription	GM12878-XiMat	blood
35	chr5:43646000-43661000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:43646200-43657200	Strong transcription	Primary T cells from cord blood	blood
37	chr5:43646400-43661400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:43646600-43657400	Strong transcription	Fetal Intestine Large	intestine
39	chr5:43646800-43655000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:43647000-43653400	Strong transcription	Primary B cells from cord blood	blood
41	chr5:43647000-43662400	Strong transcription	Hela-S3	cervix
42	chr5:43647000-43664200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:43647400-43651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:43647800-43652400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:43647800-43657600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:43647800-43661400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:43648000-43651000	Strong transcription	Fetal Brain Female	brain
48	chr5:43648000-43653400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr5:43648000-43653600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:43648000-43657000	Strong transcription	Fetal Muscle Leg	muscle

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