Variant report

Variant	rs923944
Chromosome Location	chr6:34217626-34217627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34217612-34217690	GM12878	blood:	n/a	n/a
2	SMC3	chr6:34216074-34218050	SK-N-SH	brain:	n/a	chr6:34217079-34217089
3	POLR2A	chr6:34215808-34217666	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:34217445-34217698	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chr6:34215772-34218220	SK-N-SH	brain:	n/a	chr6:34217076-34217090

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
2	chr6:34213633..34219276-chr6:34358105..34363296,16	MCF-7	breast:
3	chr6:34215435..34217871-chr6:34390764..34394019,4	MCF-7	breast:
4	chr6:34214133..34219385-chr6:34356600..34362053,16	K562	blood:
5	chr6:34215295..34220270-chr6:34358417..34361933,11	MCF-7	breast:
6	chr6:34216636..34217720-chr6:34359855..34360887,3	MCF-7	breast:
7	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
8	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:

No data

Variant related genes	Relation type
C6orf1	TF binding region
ENSG00000124614	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000270800	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1150776	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1150782	1.00[EUR][1000 genomes]
rs1150783	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11964107	1.00[EUR][1000 genomes]
rs11964899	1.00[EUR][1000 genomes]
rs1776894	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2797965	1.00[EUR][1000 genomes]
rs35333862	1.00[EUR][1000 genomes]
rs58752340	1.00[EUR][1000 genomes]
rs60121695	1.00[EUR][1000 genomes]
rs6899326	1.00[EUR][1000 genomes]
rs7762530	1.00[EUR][1000 genomes]
rs923943	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv969388	chr6:34213490-34240324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr6:34215800-34217800	Enhancers	Fetal Heart	heart
2	chr6:34216200-34217800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:34216200-34217800	Active TSS	Thymus	Thymus
4	chr6:34216400-34217800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:34216400-34217800	Active TSS	Brain Angular Gyrus	brain
6	chr6:34216400-34217800	Active TSS	Brain Anterior Caudate	brain
7	chr6:34216400-34217800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:34216600-34217800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:34216600-34217800	Active TSS	Primary T cells from cord blood	blood
10	chr6:34216600-34217800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:34216600-34217800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:34216600-34217800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:34216600-34217800	Active TSS	HSMM	muscle
14	chr6:34216600-34217800	Active TSS	Osteobl	bone
15	chr6:34216600-34218000	Active TSS	NHLF	lung
16	chr6:34216600-34218200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:34216800-34217800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:34217200-34217800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:34217200-34217800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:34217200-34217800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:34217200-34217800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:34217200-34217800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr6:34217200-34217800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr6:34217200-34217800	Flanking Active TSS	Dnd41	blood
25	chr6:34217200-34218200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:34217400-34217800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:34217400-34217800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:34217400-34217800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr6:34217400-34217800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:34217400-34217800	Enhancers	Fetal Stomach	stomach
31	chr6:34217400-34217800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr6:34217400-34217800	Flanking Active TSS	Hela-S3	cervix
33	chr6:34217400-34218000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:34217400-34218000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:34217400-34218000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:34217400-34218000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:34217400-34218000	Enhancers	Esophagus	oesophagus
38	chr6:34217400-34218000	Enhancers	Right Ventricle	heart
39	chr6:34217400-34218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:34217400-34218200	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:34217400-34218200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:34217400-34218200	Enhancers	Fetal Thymus	thymus
43	chr6:34217400-34218200	Enhancers	Left Ventricle	heart
44	chr6:34217400-34218200	Enhancers	Lung	lung
45	chr6:34217400-34218200	Enhancers	Pancreas	Pancrea
46	chr6:34217400-34218200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:34217400-34218200	Enhancers	Spleen	Spleen
48	chr6:34217400-34218200	Enhancers	HSMMtube	muscle
49	chr6:34217600-34217800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr6:34217600-34217800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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