Variant report

Variant	rs2283781
Chromosome Location	chr7:2826444-2826445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2822854..2825744-chr7:2825933..2828348,2	MCF-7	breast:
2	chr7:2816808..2818862-chr7:2824374..2826830,2	K562	blood:
3	chr7:2820643..2823632-chr7:2824452..2826703,2	K562	blood:
4	chr7:2825414..2827300-chr7:2829208..2831201,2	K562	blood:
5	chr7:2802572..2804295-chr7:2824377..2826517,2	MCF-7	breast:
6	chr7:2825414..2828285-chr7:2829208..2832535,3	K562	blood:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2283780	1.00[EUR][1000 genomes]
rs34526419	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6461604	1.00[AMR][1000 genomes]
rs6942735	1.00[AMR][1000 genomes]
rs7803389	1.00[AMR][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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
15	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:2813800-2829200	Weak transcription	Esophagus	oesophagus
17	chr7:2814400-2838800	Weak transcription	K562	blood
18	chr7:2815600-2829200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:2815600-2831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:2815800-2840600	Weak transcription	Fetal Brain Male	brain
21	chr7:2816200-2828000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:2816200-2831600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:2816400-2831600	Weak transcription	Brain Substantia Nigra	brain
24	chr7:2817000-2829400	Weak transcription	Colonic Mucosa	Colon
25	chr7:2818000-2827400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:2818400-2831200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:2819200-2831600	Weak transcription	Hela-S3	cervix
28	chr7:2821600-2827000	Weak transcription	Psoas Muscle	Psoas
29	chr7:2822400-2827800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:2822400-2835000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:2822600-2828000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:2822600-2841000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:2822800-2829600	Weak transcription	Fetal Thymus	thymus
34	chr7:2822800-2834800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:2823200-2827200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:2823200-2828400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:2823600-2835000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:2824000-2842800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:2824400-2836600	Weak transcription	Small Intestine	intestine
40	chr7:2824800-2834800	Strong transcription	Fetal Intestine Small	intestine
41	chr7:2824800-2835000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:2825000-2826600	Weak transcription	Right Atrium	heart
43	chr7:2825000-2826600	Weak transcription	Right Ventricle	heart
44	chr7:2825000-2826600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:2825000-2827000	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:2825000-2827200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:2825000-2828200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:2825000-2829000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:2825000-2829200	Weak transcription	Brain Anterior Caudate	brain
50	chr7:2825000-2830600	Weak transcription	HMEC	breast

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