Variant report

Variant	rs12212723
Chromosome Location	chr6:38074315-38074316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38072823..38074377-chr6:38076432..38078793,2	K562	blood:
2	chr6:38070190..38071946-chr6:38073075..38075419,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10456097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10947712	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190306	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194618	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194823	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204352	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12213151	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214375	0.95[EUR][1000 genomes]
rs1569657	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16890344	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281266	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645102	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645113	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2645127	0.83[AFR][1000 genomes]
rs2645131	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645134	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645137	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842500	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2842527	0.83[AFR][1000 genomes]
rs2842529	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34952988	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35257826	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56098839	0.80[AFR][1000 genomes]
rs56140804	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62397001	0.82[EUR][1000 genomes]
rs7747130	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941850	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:38036400-38075000	Weak transcription	Thymus	Thymus
4	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:38045800-38079800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:38046000-38084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:38047600-38076200	Weak transcription	Fetal Stomach	stomach
8	chr6:38049200-38077400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:38049400-38084400	Weak transcription	Hela-S3	cervix
10	chr6:38051400-38074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:38051400-38076200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:38051600-38076200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:38051600-38078200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:38052000-38074800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:38052800-38083800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:38052800-38084000	Weak transcription	Dnd41	blood
17	chr6:38053000-38075800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:38053000-38078200	Weak transcription	Fetal Intestine Large	intestine
19	chr6:38053000-38084000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:38053000-38090400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:38053200-38078200	Weak transcription	Fetal Thymus	thymus
22	chr6:38053200-38078200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:38053200-38080000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:38053200-38084000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:38054200-38080000	Weak transcription	Psoas Muscle	Psoas
26	chr6:38054400-38084000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:38054600-38084000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:38055000-38075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:38055600-38084400	Weak transcription	Adipose Nuclei	Adipose
30	chr6:38055800-38084200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:38057200-38109200	Weak transcription	K562	blood
32	chr6:38059400-38074800	Weak transcription	Fetal Lung	lung
33	chr6:38059800-38076200	Weak transcription	Lung	lung
34	chr6:38059800-38077800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:38059800-38091600	Weak transcription	Spleen	Spleen
36	chr6:38060000-38092000	Weak transcription	Aorta	Aorta
37	chr6:38060000-38099400	Weak transcription	Right Ventricle	heart
38	chr6:38060000-38108200	Weak transcription	Ovary	ovary
39	chr6:38060200-38078200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:38060600-38078400	Weak transcription	Brain Angular Gyrus	brain
41	chr6:38061200-38078000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:38061600-38076200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:38061600-38078200	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:38061800-38076400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:38062000-38075000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:38063400-38078000	Weak transcription	HSMMtube	muscle
47	chr6:38063400-38083600	Weak transcription	HepG2	liver
48	chr6:38063400-38085600	Weak transcription	A549	lung
49	chr6:38063600-38077600	Weak transcription	NHLF	lung
50	chr6:38063600-38078200	Weak transcription	HSMM	muscle

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