Variant report

Variant	rs1864241
Chromosome Location	chr7:26254144-26254145
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26253560..26255433-chr7:26347806..26350350,2	K562	blood:
2	chr7:26248545..26251073-chr7:26252692..26255530,3	MCF-7	breast:
3	chr7:26249037..26251510-chr7:26254013..26255704,2	MCF-7	breast:
4	chr7:26251555..26253253-chr7:26253823..26256718,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10499573	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951126	0.94[EUR][1000 genomes]
rs10951127	0.89[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs11978377	0.94[EUR][1000 genomes]
rs11979154	0.94[EUR][1000 genomes]
rs12533620	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12539124	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2070601	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237329	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237330	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2237332	0.94[EUR][1000 genomes]
rs2237333	0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes]
rs2237334	0.94[EUR][1000 genomes]
rs41374744	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4273	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58438239	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58914793	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960012	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9638832	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9639531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv970454	chr7:26251506-26254224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26244800-26254200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:26245800-26254200	Strong transcription	Fetal Thymus	thymus
4	chr7:26245800-26257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:26245800-26263400	Weak transcription	Fetal Brain Male	brain
6	chr7:26246000-26254200	Strong transcription	A549	lung
7	chr7:26250000-26254600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:26250200-26254200	Weak transcription	Brain Anterior Caudate	brain
9	chr7:26250200-26254200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:26250200-26254200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:26250200-26254400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:26250200-26254600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:26250200-26256600	Weak transcription	Small Intestine	intestine
14	chr7:26250200-26263400	Weak transcription	Fetal Heart	heart
15	chr7:26250400-26254400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:26250600-26254200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:26250600-26256400	Weak transcription	Psoas Muscle	Psoas
18	chr7:26250800-26255000	Weak transcription	Fetal Stomach	stomach
19	chr7:26250800-26255800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:26251200-26254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:26251400-26257200	Weak transcription	HepG2	liver
22	chr7:26251600-26256000	Weak transcription	NHEK	skin
23	chr7:26251800-26254200	Weak transcription	Ovary	ovary
24	chr7:26251800-26254600	Weak transcription	NHDF-Ad	bronchial
25	chr7:26251800-26255200	Weak transcription	Left Ventricle	heart
26	chr7:26251800-26255400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:26251800-26257600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:26252200-26254200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:26252200-26254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:26252400-26254800	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:26252600-26254400	Weak transcription	HMEC	breast
32	chr7:26252800-26254400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:26252800-26254400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:26252800-26254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:26252800-26254400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:26252800-26254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:26252800-26254600	Weak transcription	NH-A	brain
38	chr7:26252800-26254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:26252800-26254800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:26252800-26254800	Weak transcription	HUVEC	blood vessel
41	chr7:26252800-26255200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:26252800-26255200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:26252800-26255200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:26252800-26255200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:26252800-26255200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:26252800-26255200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:26252800-26255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:26252800-26256200	Weak transcription	HSMMtube	muscle
49	chr7:26252800-26257000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:26252800-26263800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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